ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg)

gnomAD frequency: 0.00001  dbSNP: rs181197242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039263 SCV000062947 uncertain significance not specified 2011-11-04 criteria provided, single submitter clinical testing The Gly2378Arg variant in CDH23 has not been reported in the literature, nor pre viously identified by our laboratory. This residue is conserved across species a nd computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Gly2378A rg variant may impact the protein. However, this information is not predictive e nough to assume pathogenicity. In summary, the clinical significance of this var iant cannot be determined with certainty at this time.
Invitae RCV001240199 SCV001413125 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDH23 protein function. ClinVar contains an entry for this variant (Variation ID: 46027). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This variant is present in population databases (rs181197242, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2378 of the CDH23 protein (p.Gly2378Arg).
Natera, Inc. RCV001274909 SCV001459462 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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